KEGG   Homo sapiens (human): 388939
Entry
388939            CDS       T01001                                 
Symbol
PCARE, C2orf71, RP54
Name
(RefSeq) photoreceptor cilium actin regulator
  KO
K24165  photoreceptor cilium actin regulator
Organism
hsa  Homo sapiens (human)
Disease
H00527  Retinitis pigmentosa
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    388939 (PCARE)
   04812 Cytoskeleton proteins [BR:hsa04812]
    388939 (PCARE)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   388939 (PCARE)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Others
     388939 (PCARE)
SSDB
Motif
Pfam: Retinal
Other DBs
NCBI-GeneID: 388939
NCBI-ProteinID: NP_001025054
OMIM: 613425
HGNC: 34383
Ensembl: ENSG00000179270
UniProt: A6NGG8
Structure
LinkDB
Position
2:complement(29061695..29074523)
AA seq 1288 aa
MGCTPSHSDLVNSVAKSGIQFLKKPKAIRPGCQGGSERGSIPLLVKNSTCYDAGEGLAEE
QPSPRRNQTTAKGLCQLMGDPASGKRKDMEGLIPGTKTSSSQLNKSQSHMAKDIPFKTQG
SHGSQGADFSGDESEESSTQDTSKWKRTAKCHTSSTQSHCYQTIHPAHEPEGKVDFPEPL
VKAHQQAYTYLHSSLSKYEAILCIIHQATQTRELLQPMVSFLLLCFEEISQLLGEISKDG
EVLLQEVREDLAWPLKKREPQEQPNLLQQLLQYTVSKLQVLNGTVASLTGSFLEGSSSYL
HSTATHLENKLSTKRNVDERLLRALRQLESLASGCGDPGVQGLPLCSEDSGIGADNESVQ
SVDKLGKQTSWDLAPEPEEWKSVTSPHTEARQSGHTWQQSPFCLGSGRPQDCLLSGAPMA
KVQPRAQDEARSPCLSSTSPENITSPPLKLGTSTPCDSFGIGVSVEPHLSKTSRPMDASS
LSDSEDSSPEEEEEDKMSSMSLCAWQEKTPHSRPQSSPADRESPFQARTRRLRSLQAQEM
ILKMKESISERIKFVPVPCGHQDWSEEEEGRTVVPPRPSTVSGSRRAPERQTRSQSESCL
QSHVEDPTFQELRRVQRDLSQKLEAFYALGAKGQGQSQEQILQPRAAAVWPNGTCRVSPS
NTTSRLKASLTKNFSILPSQDKSILQKCNPHPEDEQGKAGKLPNAIPSGEVSEAAKATDW
NVRGCPTRTSVKKLIETFSPTESLRMLGDSKDAGASPCLRNCIMPPRFPKYTGLAPLYPK
PQISPASGRESLKMGIGWKPLAPIFPPLPKAEAAKSEELSCEMEGNLEHLPPPPMEVLMD
KSFASLESPESSKSTENSPKETQEPGPGEAGPTRRTWASPKLRASVSPLDLLPSKSTASL
TKPHSTGPGSGRSSCQPRKPALDLSSPPATSQSPEVKGGTWSQAEKATSLYRQPRKAIAW
HHSGPPSGQNRTSESSLARPRQSRERSPPVGRKASPTRTHWVPQADKRRRSLPSSYRPAQ
PSPSAVQTPPSPPVSPRVLSPPTTKRRTSPPHQPKLPNPPPESAPAQCKVPSPPTQHPEA
SPPFSIPSPSPPMSPSQEHKETRDSEDSQAVIAKVSGNTHSIFCPATSSLFEAKPPLSTA
HPLTPPSLPPEAGGPLGNPAECWKNSSGPWLRADSQRRAALCALNPLPFLRRTASDRQPG
GRPQPPTLDPTSTSYESQLGQNSSSEESPKKDTEPGSSPCSPELQGGTRRASPPEFCVLG
HGLQPEPRTGHIQDKSQPEAQPQQEEVS
NT seq 3867 nt   +upstreamnt  +downstreamnt
atggggtgtacaccttcacacagtgaccttgtaaacagcgttgcaaagagtggcattcag
ttcttgaaaaagcccaaagcaattcggccaggatgtcagggcggaagtgaaagaggttcc
atccctttgctggttaaaaactccacctgctatgacgctggggagggcctggcagaggag
cagccaagtcccaggaggaaccaaaccacagctaaaggtctttgtcagctcatgggagat
cctgcttcaggcaaaaggaaagatatggaaggactgatcccaggaaccaaaacctcttca
tcccagctgaacaaatcacaaagccacatggctaaggatattccgttcaagacacagggt
tcccatggatcacaaggggcagacttttctggagatgagagtgaggaaagtagtacccaa
gatacttccaaatggaaaaggacagcaaaatgtcacacgtcaagcacacagagccactgc
taccaaaccatccaccctgctcatgagcctgaaggcaaagtggacttcccggagcctctg
gtaaaggcccaccagcaggcttacacctatctacactccagcctctccaaatatgaagca
attctgtgcatcatccatcaggccacccagacccgggagctgctgcagcccatggtcagc
ttcttgctgctgtgctttgaggagatcagccagctgttgggggagatctccaaggatgga
gaagtgctcctgcaggaagtcagggaggatctggcttggcctttgaagaaaagagagccc
caggagcagccaaatctcctgcaacagctgctacagtacacagtcagcaagctgcaggtg
ctcaatggcacagtggcctcgctcaccggcagcttcctggagggctccagcagctacctc
cactccactgcaacccacttggaaaataagctgagcacaaaaaggaatgtggatgaacgc
ctcctgagggctctgaggcagctagagagcctggcgagtggctgtggcgaccctggggtg
cagggtctccccttatgctctgaggacagtggcattggtgctgacaatgagtccgtgcag
tcggtggacaagctgggcaagcaaaccagctgggaccttgcaccagagcccgaagaatgg
aagtcggtgacttcaccccacacagaggccaggcagtcaggacacacctggcagcaaagt
ccattctgtttgggctcaggcagaccccaggactgcctgctctcaggggctcctatggca
aaggttcagccacgagcacaggacgaagcaaggagcccatgcctctccagtacaagccca
gaaaatatcacctccccacctttgaagctggggacaagcaccccatgtgattcctttggg
attggggtctctgtggaaccacacctttccaaaacctccaggccgatggacgcttcatct
cttagtgacagcgaggacagcagcccagaggaggaggaggaagacaaaatgagcagcatg
agtctgtgtgcctggcaggaaaaaactccacattcaaggccacaatcttcacctgctgac
cgggaaagcccatttcaggcccgcaccaggaggcttaggagcctccaggcccaggaaatg
attctgaagatgaaggagtcaatcagcgaaaggatcaagtttgtccctgtgccctgtggg
caccaggactggtctgaggaggaggaggggaggacagtggtccccccaagacctagcacg
gtaagtggcagcaggagggcccctgagaggcagacgaggtcccagtcagagtcgtgtctc
cagagtcacgtggaggaccccacctttcaggagctgcgaagggtccagagggacctcagt
cagaagctggaggcattttatgccctgggtgccaaagggcaggggcagagccaggagcaa
attctgcagcccagagcagccgccgtgtggcccaatggcacctgcagggtcagtccaagc
aacaccaccagcaggctcaaggcatccctcaccaagaacttcagtattttgcctagtcag
gacaagagcatcttgcagaaatgcaatccccatcctgaggacgaacaaggcaaagctggg
aagcttccaaatgccatcccatcaggagaggtcagtgaggctgccaaggccacagactgg
aatgtcagaggctgtcccaccagaacatccgtcaagaagcttattgaaactttcagtccc
acggagagtctgaggatgctgggggactctaaggacgctggggcaagtccctgcctcagg
aattgcatcatgccccccagatttcccaagtacacagggcttgcccctttgtatccgaag
ccccaaatttctccagcatcaggcagagaatctctcaaaatgggcataggctggaagccc
ttagcacctatctttccccctctgcctaaagcagaagcagccaagagtgaggagctcagc
tgtgaaatggaggggaacctcgagcacctccctccaccgcctatggaagttctgatggac
aaatcattcgcttctctggagtccccagaaagcagcaagtccacagagaactcccccaag
gaaacccaggagccagggccgggagaggctggccccaccaggagaacatgggcttcccca
aagctgagggcctctgtgagccccctggacttgctgcccagcaagagcaccgccagcctg
accaagcctcacagcacagggccagggagtggcaggagcagctgccagcccaggaagcca
gccctggacctgagcagcccaccagccaccagccaaagccccgaggtgaagggtgggact
tggagtcaggcagagaaggccaccagcctctacaggcagccccggaaggccatcgcctgg
caccactccggccctccatctggacaaaacaggacctcagagtccagcctggccagacca
aggcagagccgagagagaagcccccctgtgggcagaaaggcctctcccacgaggacacac
tgggtgcctcaagcagacaagaggcgccggagccttccctcctcttacagacctgcccag
ccaagcccctctgctgtgcagacgccccccagcccacctgtgagccccagggtgctaagc
ccacccaccacaaagcggcgaacttccccaccgcaccagcccaagttgcccaaccctccc
cccgagagtgcacctgctcagtgcaaggtccccagccccccaacccagcacccagaagca
agcccccctttctcgattccctccccatcacccccaatgtccccttctcaggagcacaag
gaaacaagagactctgaagacagccaagcagtcatagccaaagtgtctgggaacacacat
tccatattctgcccagctacctcctctctgtttgaagctaaaccgccactctcaacagcc
cacccactgaccccaccatcgctgccgccagaggctgggggccctctcgggaacccagca
gaatgctggaagaacagctcagggccttggctgagagcagactcgcagcggagagcagct
ctgtgtgccctcaaccctctgcctttcctcaggaggacagcttctgaccgccagccaggt
ggccgaccgcagcctcccaccttggaccccaccagcacctcttatgaatcccagctcggc
cagaacagcagcagcgaggagagccctaagaaggacacagagccggggagcagcccctgt
tcccctgaactgcagggcggcaccaggcgtgcatctcccccagagttctgtgtgctgggc
cacgggctgcaaccggagcctcggaccggccacatccaggacaaatcccagccagaggcg
cagccccagcaagaggaggtgtcctga

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